Integrated analysis of bioinformatics, mendelian randomization, and experimental validation reveals novel diagnostic and therapeutic targets for osteoarthritis: progesterone as a p... by Ziyu Weng, Chenzhong Wang, Bo Liu, Yi Yang, Yueqi Zhang, Chi Zhang

“…Finally, Mendelian randomization analysis established a significant association between progesterone levels and multiple OA phenotypes. Conclusion In our study, IRAK3, ITGBL1, and RHOU were identified as potential novel diagnostic and therapeutic targets for OA. …”
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Genome rearrangements in neurodevelopmental disorders of the central nervous system: origins, genomic mechanisms, functional and clinical consequences. Review article by V. Kučinskas, E. Preikšaitienė, L. Ambrozaitytė, L. Cimbalistienė, A. Utkus

“…Reasearch into the genetic causes of intellectual disability is challenging because these conditions are genetically heterogeneous with many different genetic alterations resulting in clinically indistinguishable phenotypes. Extensive molecular technologies are being used in research to determine the genetic causes of these conditions. …”
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Generation and Characterization of Erythroid Cells from Human Embryonic Stem Cells and Induced Pluripotent Stem Cells: An Overview by Kai-Hsin Chang, Halvard Bonig, Thalia Papayannopoulou

“…Because of the imbalance in the supply and demand of red blood cells (RBCs), especially for alloimmunized patients or patients with rare blood phenotypes, extensive research has been done to generate therapeutic quantities of mature RBCs from hematopoietic stem cells of various sources, such as bone marrow, peripheral blood, and cord blood. …”
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Attention-based deep learning for accurate cell image analysis by Xiangrui Gao, Fan Zhang, Xueyu Guo, Mengcheng Yao, Xiaoxiao Wang, Dong Chen, Genwei Zhang, Xiaodong Wang, Lipeng Lai

“…X-Profiler combines the convolutional neural network and Transformer to encode high-content images, effectively filtering out noisy signals and precisely characterizing cell phenotypes. In comparative tests on drug-induced cardiotoxicity, mitochondrial toxicity classification, and compound classification, X-Profiler outperformed both DeepProfiler and CellProfiler, as two highly recognized and representative methods in this field. …”
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Fully automated in vivo screening system for multi-organ imaging and pharmaceutical evaluation by Junhan Duan, Guanming Lin, Kangjian Jiao, Xiaohui Hong, Xudong Lin

“…However, current strategies for phenotyping of behaving animals, such as zebrafish, typically involve tedious manipulations. …”
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Epidemiological Profile of Patients with Cutaneous Melanoma in a Region of Southern Brazil by Marcelo Moreno, Ricardo Ludwig Schmitt, Maria Gabriela Lang, Vanessa Gheno

“…This fact is most likely due to the phenotypic characteristics of the population and the high incidence of UV radiation in this region due to its location in southern Brazil, as is the case in the countries of Oceania.…”
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Detection of genomic loci associated with days to heading in tropical japonica rice through QTL-seq by Khairul Yusuf Nasution, Dani Satyawan, Muhamad Yunus, Azri Kusuma Dewi, Puput Melati, Marina Yuniawati Maryono, Ita Dwimahyani, Wening Enggarini, Sobrizal

“…This study investigated the genetic basis of days to heading (DTH) in tropical japonica rice using F2 populations derived from late-maturing Rojolele and early-maturing Rojolele Srinuk varieties. Phenotypic analysis of DTH showed continuous distribution and positive skewness. …”
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Corneal Stem Cells as a Source of Regenerative Cell-Based Therapy by Jasmin S. Nurković, Radiša Vojinović, Zana Dolićanin

“…This review describes in detail phenotypic characteristics of LESCs and CSSCs and discusses their therapeutic potential in corneal regeneration. …”
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Vitreous Analysis in the Management of Uveitis by Erika M. Damato, Martina Angi, Mario R. Romano, Francesco Semeraro, Ciro Costagliola

“…A correct diagnosis of uveitis is often challenging, given the wide range of possible underlying conditions and the lack of typical phenotypes. Management decisions may be difficult in view of the risk of visual loss with either inappropriate or delayed therapy. …”
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Effect of Water Velocity on the Timing of Skeletogenesis in the Arctic Charr, Salvelinus alpinus (Salmoniformes: Teleostei): An Empirical Case of Developmental Plasticity by Richard Cloutier, Alain Caron, Thomas Grünbaum, Nathalie R. Le François

“…Phenotypic plasticity has been demonstrated in fishes but rarely addressed with respect to skeletogenesis. …”
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Focus on Basal Cell Carcinoma by Venura Samarasinghe, Vishal Madan, John T. Lear

“…Whilst there is a definite role of sunexposure in the pathogenesis of BCC, several additional complex genotypic, phenotypic and environmental factors are contributory. …”
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Specific types of male infertility are correlated with T cell exhaustion or senescence signatures by Giada Amodio, Giorgia Giacomini, Luca Boeri, Massimiliano Raffo, Simone Cilio, Edoardo Pozzi, Federico Belladelli, Fausto Negri, Anna Maria Ferrara, Alessia d’Arma, Francesca Romana Santoni de Sio, Luca Pagliardini, Enrico Papaleo, Eugenio Ventimiglia, Massimo Alfano, Francesco Montorsi, Andrea Salonia, Silvia Gregori

“…Here, by combining multiparameter phenotyping and scRNA-seq, we delineate the immune status of infertile men both at the semen and systemic levels. …”
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Novel Approach to Bile Duct Damage in Primary Biliary Cirrhosis: Participation of Cellular Senescence and Autophagy by Motoko Sasaki, Yasuni Nakanuma

“…Furthermore, senescent BECs may modulate the microenvironment around bile ducts by expressing various chemokines and cytokines called senescence-associated secretory phenotypes and contribute to the pathogenesis in PBC.…”
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Absence of Rybp Compromises Neural Differentiation of Embryonic Stem Cells by Gergo Kovacs, Viktoria Szabo, Melinda K. Pirity

“…In this study we further investigated the role of Rybp in neural differentiation by utilising wild type (rybp+/+) and rybp null mutant (rybp-/-) embryonic stem cells (ESCs) and tried to uncover underlying molecular events that are responsible for the observed phenotypic changes. We found that rybp null mutant ESCs formed less matured neurons, astrocytes, and oligodendrocytes from existing progenitors than wild type cells. …”
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Intrinsic Gene Expression Correlates of the Biophysically Modeled Diffusion Magnetic Resonance Imaging Signal by Ajay P. Singh, Michael Fromandi, Daniel Pimentel-Alarcón, Donna M. Werling, Audrey P. Gasch, John-Paul J. Yu

“…In sum, our data suggest fundamental relationships between gene expression and diffusion MRI, implicating the potential of diffusion MRI to probe causal neurobiological mechanisms in neuroimaging phenotypes in autism spectrum disorder.…”
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Role of macrophage in intervertebral disc degeneration by Yiming Dou, Yiming Zhang, Yang Liu, Xun Sun, Xinyu Liu, Bin Li, Qiang Yang

“…Macrophages, as key immune cells, critically regulate inflammation through polarization into different phenotypes. In recent years, the role of macrophages in inflammation-related degenerative diseases, such as intervertebral disc degeneration, has been increasingly recognized. …”
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Recent advances in mesenchymal stem cell therapy for multiple sclerosis: clinical applications and challenges by Kamran Sheikhi, Salah Ghaderi, Hassan Firouzi, Sarvenaz Rahimibarghani, Ehsan Shabani, Hamed Afkhami, Hamed Afkhami, Hamed Afkhami, Aref Yarahmadi

“…It examines preclinical studies and clinical trials evaluating the efficacy, safety, and limitations of MSC therapy in various MS phenotypes. Special attention is given to challenges such as delivery routes, dosing regimens, and integrating MSCs with conventional therapies. …”
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EutherianCoP. An integrated biotic and climate database for conservation paleobiology based on eutherian mammals by Alessandro Mondanaro, Giorgia Girardi, Silvia Castiglione, Axel Timmermann, Elke Zeller, Thushara Venugopal, Carmela Serio, Marina Melchionna, Antonella Esposito, Mirko Di Febbraro, Pasquale Raia

“…For all species, we provide 32 different traits, inclusive of taxonomic, phenotypic, life history, biogeographic and phylogenetic information. …”
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Targeting Toll-Like Receptors for Treatment of SLE by Christopher G. Horton, Zi-jian Pan, A. Darise Farris

“…Since activation of these receptor pathways promotes autoimmune phenotypes, inhibitory drugs that target these pathways constitute important new therapeutic strategies for the treatment of systemic autoimmunity.…”
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Jacobsen syndrome associated with Shone’s complex: a case report by Andressa Brum, Larissa Valéria Laskoski, Fabiana Gonçalves de Oliveira Azevedo Matos, Luciana Paula Grégio d’Arce

“…ABSTRACT Objective: The aim of this study was to report the case of a child with Jacobsen syndrome in order to provide phenotypic information about this rare genetic disorder. …”
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